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Alternating hemiplegia of childhood (AHC) is a rare neurological disorder that usually manifests before 18 months of age and is characterized by recurrent, alternating episodes of hemiparesis with variable frequency and can last from a few minutes to several days. We present a case of AHC in a little girl carrying a sporadic mutation in the ATP1A3 gene (p.Glu815Lys) refractory to flunarizine and non-compliant to topiramate due to adverse effects treated with oral compound of adenosine-5'-triphosphate (ATP) capsules.
View Article and Find Full Text PDFAPOE4 Increases Susceptibility to Amyloid, Accelerating Episodic Memory Decline.
bioRxiv
December 2024
Department of Neurobiology and Behavior, University of California Irvine.
Apolipoprotein E4 (APOE4) is the strongest genetic risk factor for sporadic Alzheimer's disease (AD). Individuals with one copy of APOE4 exhibit greater amyloid-beta (Aβ) deposition compared to noncarriers, an effect that is even more pronounced in APOE4 homozygotes. Interestingly, APOE4 carriers not only show more AD pathology but also experience more rapid cognitive decline, particularly in episodic memory.
View Article and Find Full Text PDFBrain age in genetic and idiopathic Parkinson's disease.
Brain Commun
December 2024
Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) Rostock-Greifswald, Rostock 18147, Germany.
The brain-age gap, i.e. the difference between the brain age estimated from structural MRI data and the chronological age of an individual, has been proposed as a summary measure of brain integrity in neurodegenerative diseases.
View Article and Find Full Text PDFDifferences in baseline cognitive performance between participants with early-onset and late-onset Alzheimer's disease: Comparison of LEADS and ADNI.
Alzheimers Dement
December 2024
Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Introduction: Early-onset Alzheimer's disease (EOAD) and late-onset Alzheimer's disease (LOAD) share similar amyloid etiology, but evidence from smaller-scale studies suggests that they manifest differently clinically. Current analyses sought to contrast the cognitive profiles of EOAD and LOAD.
Methods: Z-score cognitive-domain composites for 311 amyloid-positive sporadic EOAD and 314 amyloid-positive LOAD participants were calculated from baseline data from age-appropriate control cohorts.
Thyrotoxic Periodic Paralysis With Graves' Disease: A Case Report.
Cureus
November 2024
Emergency Medicine, Amrita Institute of Medical Sciences, Kochi, IND.
One type of hypokalemic periodic paralysis that is associated with hyperthyroidism is called thyrotoxic periodic paralysis (TPP). TPP can be linked to any cause of hyperthyroidism, although Graves' disease is the most common cause. This sporadic variant of hypokalaemic periodic paralysis, thyrotoxic periodic paralysis, is characterized by rapid onset weakness in the proximal muscles.
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